Articles from Journal of Biochemical and Clinical Genetics
- Supplementary testing after negative or inconclusive exome sequencing results
Balsam AlMaarik, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed A. Alfares
JBCGenetics. 2023; 6(1): 1-13
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1659513785
- Vosoritide: a drug providing a promising avenue for the treatment of short stature in children with achondroplasia
Amsal Qureshi, Areesha Moiz Alvi
JBCGenetics. 2022; 5(2): 059-060
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1653668216
- Phelan-McDermid syndrome: a case report and review of the literature
Osama Yousef Muthaffar, Anas Saeed Alyazidi
JBCGenetics. 2022; 5(2): 053-058
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1646057756
- NTRK2-Related Obesity, Hyperphagia, and Developmental Delay: Case Report
Anwar Ramadan Alhamas, Amal Mohammed Alhashem, Ali Alasmari, Eissa Ali Faqeih
JBCGenetics. 2022; 5(2): 48-52
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1665949143
- A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing
Gulhan Gurel, Muhsin Elmas, Basak Gogus
JBCGenetics. 2022; 5(2): 043-047
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1656681352
- Genetic impact of non-consanguineous marriages in Saudi Arabia.
Mohammed Alyahya, Taghrid Aloraini, Youseef Al-Harbi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyaid, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares
JBCGenetics. 2022; 5(2): 37-42
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1664872492
- Karyotyping in the era of Genome Sequencing
Hatem Elghezal
JBCGenetics. 2022; 5(2): 35-36
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1657624831
- A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review
Abdulla Al Blooshi, Aisha Al-Shamsi
JBCGenetics. 2022; 5(1): 29-34
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1645370249
- A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism
Khloud M. Al Rubaya, Faten F. AlMijmaj, Talal S. AlAnzi, Abdullah A. AlJasser
JBCGenetics. 2022; 5(1): 25-28
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1631602838
- A case report of a first pregnant woman with late-onset multiple acyl-CoA dehydrogenase deficiency in Saudi Arabia
Shirin Al Sharfa, Rawda Sunbul, Zainab Al Masseri, Moeenaldeen AlSayed, Zuhair N. Al-Hassnan
JBCGenetics. 2022; 5(1): 20-24
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1630496130
- Tyrosinemia type I: an unusual case presentation
Marwa ALMahroos, Mohammed AlMannai
JBCGenetics. 2022; 5(1): 17-19
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1624791068
- Genetic landscape of epilepsies in Kingdom of Saudi Arabia: a brief review
Waleed Altwaijri
JBCGenetics. 2022; 5(1): 12-16
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1628079617
- Assessing the knowledge and awareness of the Taif community about genetic diseases
Ghaliah Alnefaie, Atheer Alfuhayd, Majed Bahader, Razan Alhumyani, Abdulhameed Sarriyah, Atheer Alshanbari, Kholood Althobaiti
JBCGenetics. 2022; 5(1): 1-11
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1647436069
- Phenotypic expansion of Zimmermann- Laband syndrome associated with cardiac and hearing loss: a case report
Mohammed Omar Galal, Mohamed Hesham Mashali, Ahmad Zaheer, Zuhair Rahbeeni
JBCGenetics. 2021; 4(2): 122-125
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1613027889
- Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis
Rehab Al Jawad, Omhani Malibari
JBCGenetics. 2021; 4(2): 118-121
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1609604470
- Saudi patient with peroxisome biogenesis disorder with novel variant: a case report
Ahmed Awad AbuAlreesh, Rayah Mohamed Asiri, Abeer Awad AbuAlreesh, Zuhair Rahbeeni
JBCGenetics. 2021; 4(2): 115-117
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1612612814
- Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause
Sawsan Abdullah, Zuhair Rahbeeni
JBCGenetics. 2021; 4(2): 112-114
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1614443590
- Ethical solicitude in medical genetics as perceived from a genetic counselor's perspective in the tribal-based community of Saudi Arabia
Alya Qari, Moeen Al-Sayed, Zuhair Al-Hassnan, Amin Kashmeery
JBCGenetics. 2021; 4(2): 100-111
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1619687090
- Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing
Abdul Ali Peer-Zada, Osama A. Obaid, Manar A. Samman, Aqeela AlHashim, Hajar AlAsmari, Ali M. AlAsmari
JBCGenetics. 2021; 4(2): 93-99
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1603863426
- Knowledge and awareness of genetic diseases among residents of the western region of Saudi Arabia
Abdulmajeed Fahad Alrefaei, Ahmed B. Ashoor, Ibrahim S. Alzahrani, Ibrahim Y. Tarbiyyah, Muath Alrehily, Rayyan S. Alharbi, Sameer H. Qari
JBCGenetics. 2021; 4(2): 85-92
» Abstract » Full-text PDF » doi: 10.24911/JBCGenetics/183-1609181653
Pages: 1234567 |
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| Journal of Biochemical and Clinical Genetics | | Publisher : | Saudi Society of Medical Genetics | | Title : | Journal of Biochemical and Clinical Genetics | | Abbreviation : | JBCGenetics | | p-ISSN : | 1658-807X | | e-ISSN : | 1658-8088 | | Language(s) : | English | | Frequency : | 2 issues per year | | Subject : | Genetics | | List Articles from Journal of Biochemical and Clinical Genetics |
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